DSD Diagnostic Algorithm

Comparison
dr. Arry Rodjani SpU-K
Department of Urology, Cipto Mangunkusumo Hospital
Division of Urology, Department of Surgery
Faculty of Medicine University of Indonesia
• When puberty --> T gonadotropin, androstenedione, estrone + T

• Etiology: steroid binding domain mutation in androgen receptor

• Insidence: 1:40.000 men birth
• CAIS
• normal female, fenotipe XY, testicle is present
• gonadectomy
• therapy of vaginal hipoplasia
• Malignancy in CAIS 0.8% --> usually after puberty --> abdominal
yolksac tumor (case report; Handa N, et al. 1995)
• SAR Deficiency --> usually there is a nolfion structure, female
urogenital sinus + external genitalia
• Born as woman, raised as woman --> when puberty : testosterone is
elevated, DHT is decreased
• Mullerian Inhibiting Substance (MIS) --> secreted by sertolli cell -->
apoptotic + regresion from mullerian duct
• DD/ inguinale uterine hernia, associated with cryptorchidism,
seminoma, intra-abdominal testicular torsion